Canonical Allele Identifier: CA412396015

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19377036A>T (hg19) ; chrX:g.19358918A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358918A>T , CM000685.2:g.19358918A>T	GRCh38
NC_000023.10:g.19377036A>T , CM000685.1:g.19377036A>T	GRCh37
NC_000023.9:g.19286957A>T	NCBI36
NG_016781.1:g.20026A>T
NG_021184.1:g.161344T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.923A>T	ENSP00000348062.6:p.Tyr308Phe
ENST00000379805.4:c.*594A>T	ENSP00000369133.3:n.*594A>T
ENST00000417819.6:c.986A>T	ENSP00000404616.2:p.Tyr329Phe
ENST00000423505.6:c.1016A>T	ENSP00000406473.2:p.Tyr339Phe
ENST00000481733.2:n.697A>T
ENST00000696704.1:c.*234A>T	ENSP00000512823.1:n.*234A>T
ENST00000696705.1:c.*357A>T	ENSP00000512824.1:n.*357A>T
ENST00000422285.7:c.902A>T MANE Select	ENSP00000394382.2:p.Tyr301Phe
ENST00000379804.1:c.59A>T	ENSP00000369132.1:p.Tyr20Phe
ENST00000379806.9:c.1016A>T	ENSP00000369134.5:p.Tyr339Phe
ENST00000422285.6:c.902A>T	ENSP00000394382.2:p.Tyr301Phe
ENST00000478795.1:n.341A>T
ENST00000481733.1:n.330A>T
ENST00000540249.5:c.809A>T	ENSP00000440761.1:p.Tyr270Phe
ENST00000545074.5:c.923A>T	ENSP00000438550.1:p.Tyr308Phe
NM_000284.3:c.902A>T	NP_000275.1:p.Tyr301Phe
NM_001173454.1:c.1016A>T	NP_001166925.1:p.Tyr339Phe
NM_001173455.1:c.923A>T	NP_001166926.1:p.Tyr308Phe
NM_001173456.1:c.809A>T	NP_001166927.1:p.Tyr270Phe
XM_011545531.1:c.1037A>T	XP_011543833.1:p.Tyr346Phe
XM_011545532.1:c.944A>T	XP_011543834.1:p.Tyr315Phe
XM_017029574.2:c.923A>T	XP_016885063.1:p.Tyr308Phe
NM_000284.4:c.902A>T MANE Select	NP_000275.1:p.Tyr301Phe
NM_001173454.2:c.1016A>T	NP_001166925.1:p.Tyr339Phe
NM_001173455.2:c.923A>T	NP_001166926.1:p.Tyr308Phe
NM_001173456.2:c.809A>T	NP_001166927.1:p.Tyr270Phe